CELSR1

CELSR1
Identifiers
Aliases	CELSR1 , CDHF9, FMI2, HFMI2, ME2, ADGRC1, cadherin EGF LAG seven-pass G-type receptor 1, LMPHM9
External IDs	OMIM: 604523 MGI: 1100883 HomoloGene: 7665 GeneCards: CELSR1
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q13.31 Start 46,360,834 bp [1] End 46,537,620 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 E2|15 40.42 cM Start 85,783,130 bp [2] End 85,918,404 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell right uterine tube ganglionic eminence skin of abdomen anterior pituitary secondary oocyte palpebral conjunctiva right lung upper lobe of left lung minor salivary gland Top expressed in molar hair follicle lip medullary collecting duct secondary oocyte conjunctival fornix skin of abdomen ganglionic eminence esophagus Epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding G protein-coupled receptor activity protein dimerization activity signal transducer activity transmembrane signaling receptor activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane nucleoplasm Biological process hair follicle development planar dichotomous subdivision of terminal units involved in lung branching morphogenesis G protein-coupled receptor signaling pathway lateral sprouting involved in lung morphogenesis regulation of actin cytoskeleton organization locomotory behavior orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis establishment of planar polarity of embryonic epithelium establishment of planar polarity wound healing neuron migration establishment of body hair planar orientation planar cell polarity pathway involved in neural tube closure multicellular organism development Wnt signaling pathway, planar cell polarity pathway central nervous system development cell surface receptor signaling pathway neural tube closure cell adhesion inner ear morphogenesis apical protein localization Rho protein signal transduction anterior/posterior pattern specification signal transduction homophilic cell adhesion via plasma membrane adhesion molecules protein localization involved in establishment of planar polarity cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9620 12614 Ensembl ENSG00000075275 ENSMUSG00000016028 UniProt Q9NYQ6 O35161 RefSeq (mRNA) NM_014246 NM_001378328 NM_009886 RefSeq (protein) NP_055061 NP_001365257 NP_034016 Location (UCSC) Chr 22: 46.36 – 46.54 Mb Chr 15: 85.78 – 85.92 Mb PubMed search [3] [4]
Wikidata
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Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a protein that in humans is encoded by the CELSR1 gene. ^{[5] [6]}

Function

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin G-like domains in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. ^[6]

See also

• Flamingo (protein)

References

1. GRCh38: Ensembl release 89: ENSG00000075275 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000016028 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hadjantonakis AK, Sheward WJ, Harmar AJ, de Galan L, Hoovers JM, Little PF (Nov 1997). "Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter" (PDF). Genomics. 45 (1): 97–104. doi:10.1006/geno.1997.4892. PMID   9339365.
6. "Entrez Gene: CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)".

External links

• Human CELSR1 genome location and CELSR1 gene details page in the UCSC Genome Browser .
• Human ME2 genome location and ME2 gene details page in the UCSC Genome Browser .

Further reading

• Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID   10835267.
• Wu Q, Maniatis T (1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi: 10.1016/S0092-8674(00)80789-8 . PMID   10380929. S2CID   6014717.
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID   10591208.
• Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi: 10.1073/pnas.060027397 . PMC   16203 . PMID   10716726.
• Ghosh A (2000). "Dentritic[sic] growth: don't go says flamingo". Neuron. 28 (1): 3–4. doi: 10.1016/S0896-6273(00)00076-3 . PMID   11086974. S2CID   12982330.
• Gross J, Grimm O, Ortega G, et al. (2002). "Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family". Psychiatr. Genet. 11 (4): 197–200. doi:10.1097/00041444-200112000-00003. PMID   11807409. S2CID   32757646.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Georgieva L, Nikolov I, Poriazova N, et al. (2004). "Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia". Psychiatr. Genet. 13 (2): 103–6. doi:10.1097/01.ypg.0000057486.14812.03. PMID   12782967. S2CID   28084057.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Carroll JS, Liu XS, Brodsky AS, et al. (2005). "Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1". Cell. 122 (1): 33–43. doi: 10.1016/j.cell.2005.05.008 . PMID   16009131. S2CID   16841542.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.